Canonical Allele Identifier: CA701024203

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs1271621030
• gnomAD v3: 13-76996425-TGTA-T
• gnomAD v4: 13-76996425-TGTA-T
• MyVariant Identifiers: chr13:g.77570561_77570563del (hg19) ; chr13:g.76996426_76996428del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996426_76996428del , CM000675.2:g.76996426_76996428del	GRCh38
NC_000013.10:g.77570561_77570563del , CM000675.1:g.77570561_77570563del	GRCh37
NC_000013.9:g.76468562_76468564del	NCBI36
NG_009064.1:g.9503_9505del , LRG_692:g.9503_9505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.565+299_565+301del (CLN5) MANE Select	ENSP00000366673.5:n.565+299_565+301del
ENST00000485938.4:c.*288_*290del (CLN5)	ENSP00000482959.3:n.*288_*290del
ENST00000616833.6:c.565+299_565+301del (CLN5)	ENSP00000479547.3:n.565+299_565+301del
ENST00000635838.1:c.174+299_174+301del
ENST00000635905.1:n.566+299_566+301del (CLN5)
ENST00000635915.1:c.563+299_563+301del (CLN5)
ENST00000636183.2:c.565+299_565+301del (CLN5)	ENSP00000490181.2:n.565+299_565+301del
ENST00000636520.1:n.2376_2378del (CLN5)
ENST00000636525.2:c.565+299_565+301del (CLN5)	ENSP00000490078.2:n.565+299_565+301del
ENST00000636681.1:c.*256+299_*256+301del (CLN5)	ENSP00000489922.1:n.*256+299_*256+301del
ENST00000636705.1:c.401+299_401+301del (CLN5)
ENST00000636767.2:c.565+299_565+301del (CLN5)	ENSP00000489855.2:n.565+299_565+301del
ENST00000636780.2:c.565+299_565+301del (CLN5)	ENSP00000489809.2:n.565+299_565+301del
ENST00000637192.1:c.213+299_213+301del
ENST00000637278.1:n.891+299_891+301del (CLN5)
ENST00000637397.2:c.565+299_565+301del (CLN5)	ENSP00000490422.2:n.565+299_565+301del
ENST00000637537.2:c.565+299_565+301del (CLN5)	ENSP00000489711.2:n.565+299_565+301del
ENST00000638101.1:c.169+299_169+301del	ENSP00000490535.1:n.169+299_169+301del
ENST00000638147.2:c.565+299_565+301del	ENSP00000490953.2:n.565+299_565+301del
ENST00000377453.7:c.712+299_712+301del (CLN5)	ENSP00000366673.3:n.712+299_712+301del
ENST00000485797.2:n.174-3477_174-3475del (FBXL3)
ENST00000616833.4:c.565+299_565+301del (CLN5)	ENSP00000479547.1:n.565+299_565+301del
NM_006493.2:c.712+299_712+301del , LRG_692t1:c.712+299_712+301del (CLN5)	NP_006484.1:n.712+299_712+301del
XM_011534917.1:c.712+299_712+301del (CLN5)	XP_011533219.1:n.712+299_712+301del
NM_001366624.1:c.565+299_565+301del (CLN5)	NP_001353553.1:n.565+299_565+301del
NM_006493.3:c.565+299_565+301del (CLN5)	NP_006484.2:n.565+299_565+301del
XM_017020538.2:c.644-3477_644-3475del (FBXL3)	XP_016876027.1:n.644-3477_644-3475del
NM_001366624.2:c.565+299_565+301del (CLN5)	NP_001353553.1:n.565+299_565+301del
NM_006493.4:c.565+299_565+301del (CLN5) MANE Select	NP_006484.2:n.565+299_565+301del